Incidental Mutation 'IGL00334:Pck2'
| ID |
5873 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pck2
|
| Ensembl Gene |
ENSMUSG00000040618 |
| Gene Name |
phosphoenolpyruvate carboxykinase 2 (mitochondrial) |
| Synonyms |
1810010O14Rik, 9130022B02Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.201)
|
| Stock # |
IGL00334
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
55777721-55787477 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55780098 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 89
(Y89H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153733
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048781]
[ENSMUST00000226352]
[ENSMUST00000226519]
[ENSMUST00000228240]
|
| AlphaFold |
Q8BH04 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048781
AA Change: Y116H
PolyPhen 2
Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000038555
Gene: ENSMUSG00000040618
AA Change: Y116H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
22 |
N/A |
INTRINSIC |
|
Pfam:PEPCK
|
73 |
664 |
1.9e-276 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226231
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226270
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226295
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226352
AA Change: Y89H
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226514
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226519
AA Change: Y89H
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000226650
AA Change: Y79H
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228240
AA Change: Y81H
PolyPhen 2
Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000228921
AA Change: Y79H
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226714
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228843
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226664
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228283
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226770
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial enzyme that catalyzes the conversion of oxaloacetate to phosphoenolpyruvate in the presence of guanosine triphosphate (GTP). A cytosolic form of this protein is encoded by a different gene and is the key enzyme of gluconeogenesis in the liver. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arsb |
T |
G |
13: 94,075,787 (GRCm39) |
H423Q |
probably benign |
Het |
| Bltp2 |
T |
A |
11: 78,160,400 (GRCm39) |
L620I |
possibly damaging |
Het |
| Ces1f |
T |
C |
8: 93,994,620 (GRCm39) |
T264A |
probably benign |
Het |
| Clcn6 |
C |
A |
4: 148,102,359 (GRCm39) |
|
probably null |
Het |
| Cyb5r3 |
C |
A |
15: 83,044,605 (GRCm39) |
A138S |
probably benign |
Het |
| Cyp3a57 |
A |
T |
5: 145,307,834 (GRCm39) |
N197Y |
probably damaging |
Het |
| Dctn2 |
A |
G |
10: 127,113,559 (GRCm39) |
|
probably benign |
Het |
| Dnmt1 |
C |
T |
9: 20,821,566 (GRCm39) |
A1197T |
possibly damaging |
Het |
| Dock2 |
T |
C |
11: 34,595,488 (GRCm39) |
D436G |
probably damaging |
Het |
| Drd4 |
A |
G |
7: 140,872,096 (GRCm39) |
N49S |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,205,373 (GRCm39) |
V521D |
probably damaging |
Het |
| Eif5b |
T |
C |
1: 38,080,800 (GRCm39) |
S714P |
probably damaging |
Het |
| Glis3 |
A |
G |
19: 28,517,664 (GRCm39) |
I178T |
probably damaging |
Het |
| Gm11565 |
T |
A |
11: 99,806,021 (GRCm39) |
C138S |
possibly damaging |
Het |
| H1f8 |
T |
A |
6: 115,924,588 (GRCm39) |
|
probably benign |
Het |
| Hdx |
T |
A |
X: 110,492,578 (GRCm39) |
I623F |
probably benign |
Het |
| Huwe1 |
T |
G |
X: 150,668,623 (GRCm39) |
L843V |
probably damaging |
Het |
| Hyal2 |
T |
C |
9: 107,447,604 (GRCm39) |
Y86H |
probably damaging |
Het |
| Irf7 |
A |
T |
7: 140,844,553 (GRCm39) |
S157T |
probably benign |
Het |
| Jmjd4 |
T |
A |
11: 59,346,140 (GRCm39) |
M331K |
probably damaging |
Het |
| Kdm2a |
A |
T |
19: 4,406,926 (GRCm39) |
D112E |
possibly damaging |
Het |
| Mamdc2 |
A |
C |
19: 23,356,138 (GRCm39) |
Y103* |
probably null |
Het |
| Map2k3 |
T |
C |
11: 60,834,041 (GRCm39) |
V77A |
possibly damaging |
Het |
| Mideas |
G |
A |
12: 84,219,629 (GRCm39) |
R442* |
probably null |
Het |
| Mprip |
T |
A |
11: 59,639,417 (GRCm39) |
D403E |
probably benign |
Het |
| Mutyh |
T |
A |
4: 116,676,516 (GRCm39) |
V496D |
possibly damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,321,042 (GRCm39) |
V2051A |
probably damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,367,262 (GRCm39) |
L2575P |
probably damaging |
Het |
| Or10j5 |
T |
G |
1: 172,785,158 (GRCm39) |
S265R |
possibly damaging |
Het |
| Or51a6 |
T |
C |
7: 102,604,311 (GRCm39) |
K173E |
probably benign |
Het |
| Pcdhb6 |
T |
A |
18: 37,467,277 (GRCm39) |
I66N |
probably damaging |
Het |
| Poglut3 |
T |
A |
9: 53,309,330 (GRCm39) |
|
probably benign |
Het |
| Poglut3 |
C |
A |
9: 53,309,328 (GRCm39) |
|
probably benign |
Het |
| Polr3e |
C |
T |
7: 120,540,034 (GRCm39) |
Q594* |
probably null |
Het |
| Ptpro |
T |
G |
6: 137,371,907 (GRCm39) |
|
probably null |
Het |
| Rfx4 |
A |
G |
10: 84,615,917 (GRCm39) |
K28E |
possibly damaging |
Het |
| Shox2 |
T |
C |
3: 66,888,774 (GRCm39) |
E39G |
possibly damaging |
Het |
| Slc22a16 |
A |
T |
10: 40,449,930 (GRCm39) |
D122V |
probably benign |
Het |
| Smr3a |
A |
C |
5: 88,155,919 (GRCm39) |
|
probably benign |
Het |
| Spmip8 |
G |
A |
8: 96,039,676 (GRCm39) |
R31H |
probably damaging |
Het |
| Taf4 |
G |
T |
2: 179,618,418 (GRCm39) |
L8M |
unknown |
Het |
| Tbkbp1 |
T |
A |
11: 97,028,474 (GRCm39) |
|
probably benign |
Het |
| Tmem120b |
G |
T |
5: 123,253,230 (GRCm39) |
E210D |
probably damaging |
Het |
| Tmem120b |
A |
T |
5: 123,253,229 (GRCm39) |
|
probably null |
Het |
| Trim21 |
C |
T |
7: 102,208,805 (GRCm39) |
V305M |
probably damaging |
Het |
| Ube4a |
A |
T |
9: 44,859,439 (GRCm39) |
L353Q |
probably damaging |
Het |
| Zfyve1 |
A |
T |
12: 83,621,572 (GRCm39) |
N274K |
probably benign |
Het |
|
| Other mutations in Pck2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00430:Pck2
|
APN |
14 |
55,781,401 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL00814:Pck2
|
APN |
14 |
55,785,756 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01012:Pck2
|
APN |
14 |
55,781,526 (GRCm39) |
splice site |
probably benign |
|
|
IGL02095:Pck2
|
APN |
14 |
55,779,967 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02227:Pck2
|
APN |
14 |
55,781,323 (GRCm39) |
missense |
probably benign |
|
|
IGL02435:Pck2
|
APN |
14 |
55,781,847 (GRCm39) |
splice site |
probably benign |
|
|
IGL03124:Pck2
|
APN |
14 |
55,782,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0271:Pck2
|
UTSW |
14 |
55,782,041 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1014:Pck2
|
UTSW |
14 |
55,779,867 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1116:Pck2
|
UTSW |
14 |
55,782,823 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1640:Pck2
|
UTSW |
14 |
55,786,041 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1793:Pck2
|
UTSW |
14 |
55,781,422 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1965:Pck2
|
UTSW |
14 |
55,779,964 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1983:Pck2
|
UTSW |
14 |
55,781,525 (GRCm39) |
splice site |
probably null |
|
|
R3196:Pck2
|
UTSW |
14 |
55,781,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4751:Pck2
|
UTSW |
14 |
55,780,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5385:Pck2
|
UTSW |
14 |
55,782,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5960:Pck2
|
UTSW |
14 |
55,786,004 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R6134:Pck2
|
UTSW |
14 |
55,781,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6276:Pck2
|
UTSW |
14 |
55,780,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7030:Pck2
|
UTSW |
14 |
55,785,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7199:Pck2
|
UTSW |
14 |
55,786,169 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7516:Pck2
|
UTSW |
14 |
55,779,913 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8066:Pck2
|
UTSW |
14 |
55,781,858 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9210:Pck2
|
UTSW |
14 |
55,779,907 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9257:Pck2
|
UTSW |
14 |
55,782,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9334:Pck2
|
UTSW |
14 |
55,785,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9499:Pck2
|
UTSW |
14 |
55,780,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9552:Pck2
|
UTSW |
14 |
55,780,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0065:Pck2
|
UTSW |
14 |
55,785,520 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1176:Pck2
|
UTSW |
14 |
55,782,726 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation